ClinVar Miner

List of variants in gene HAL reported as likely benign for amino acid metabolism disease

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_002108.3(HAL):c.-378A>G rs7970524 0.20425
NM_002108.4(HAL):c.*530T>G rs117562170 0.03547
NM_002108.4(HAL):c.*617G>A rs113875416 0.02879
NM_002108.4(HAL):c.-38C>T rs116011640 0.01294
NM_002108.4(HAL):c.*191C>T rs116122784 0.01115
NM_002108.4(HAL):c.*914T>C rs57838042 0.01081
NM_002108.4(HAL):c.492C>T (p.Tyr164=) rs17024973 0.01000
NM_002108.4(HAL):c.-322T>C rs77869005 0.00170
NM_002108.4(HAL):c.345G>A (p.Glu115=) rs188783496 0.00031
NM_002108.4(HAL):c.*408del rs71307533
NM_002108.4(HAL):c.*836C>T rs117951758
NM_002108.4(HAL):c.-216A>C rs118085647

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